|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results support the consensus that the R47H variant is significantly associated with AD.
|
31513029 |
2020 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains.
|
27887626 |
2016 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two DS cases had the AD-associated TREM2-R47H mutation, which manifested a morphologically extreme phenotype of megakaryocytes and erythrocytes in addition to impaired trafficking of TREM2 to the erythroid membrane.
|
29278889 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Molecular basis for the loss-of-function effects of the Alzheimer's disease-associated R47H variant of the immune receptor TREM2.
|
29794134 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our study suggests that Vps35/retromer is responsible for recycling of Trem2 in the regulation of microglial function such as proinflammatory responses, whereas R47H mutation impairs Trem2 trafficking, which might contribute to AD.
|
27717139 |
2016 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.
|
29902745 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations.
|
26758262 |
2016 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The results showed that rs75932628 variant was significantly associated with AD in caucasian population (P < .001, odds ratio ¼ 3.17, 95% confidence interval 2.45-4.09).
|
25852195 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.
|
29602048 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Mouse models accurately reproducing phenotypes observed in Alzheimer' disease patients carrying the R47H coding variant are required to understand the TREM2 related dysfunctions responsible for the enhanced risk for late onset Alzheimer's disease.
|
30185230 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although, rs75932628 in triggering receptor expressed on myeloid cells 2 (TREM2) was shown to increase the risk for Alzheimer's disease, there is no agreement on the association between this variant and the risk for amyotrophic lateral sclerosis (ALS).
|
26026943 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.
|
23855982 |
2013 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Independent voxel-based morphometry analysis of the Spanish set as well as conjunction and joint analyses revealed substantial gray matter loss in orbitofrontal cortex and anterior cingulate cortex with relative preservation of parietal lobes in AD and/or mild cognitive impairment TREM2 p.R47H carriers, suggesting that TREM2 p.R47H variant is associated with certain clinical and neuroimaging AD features in addition to the increased TREM2 p.R47H atrophy in temporal lobes as described previously.
|
25027412 |
2014 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases.
|
27051467 |
2016 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
GWASDB |
A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2), which was predicted to result in an R47H substitution, was found to confer a significant risk of Alzheimer's disease in Iceland (odds ratio, 2.92; 95% confidence interval [CI], 2.09 to 4.09; P=3.42×10(-10)).
|
23150908 |
2013 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recent studies have reported that a rare nonsynonymous variant rs75932628-T in the TREM2 gene is associated with increased risk of Alzheimer's disease and Parkinson's disease (PD) in European-descended populations.
|
24602511 |
2014 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.
|
27345793 |
2016 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A rare TREM2 missense mutation (rs75932628-T) was reported to confer a significant Alzheimer's disease (AD) risk.
|
26365049 |
2016 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recent genome-wide association studies have shown that a rare R47H mutation of TREM2 correlates with a substantial increase in the risk of developing Alzheimer's disease (AD).
|
25728668 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In overall meta-analysis, the summary ORs for rs75932628, rs104894002, and rs143332484 were 2.70 [95% CI: 2.24, 3.24; P < 0.001], 7.21 (95% CI: 1.28, 40.78; P = 0.025), and 1.65 (95% CI: 1.24, 2.21; P = 0.001), respectively, indicating that the TREM2 rs75932628, rs104894002, and rs143332484 may contribute to AD risk.
|
26037549 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Moreover, the rare TREM2 variant (p.Arg47His), which was considered to be a risk factor for Alzheimer's disease in European descent populations, was not detected in our cohort.
|
29723869 |
2018 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here, we report the first positive replication study in a Spanish population and confirm that TREM2 rs75932628-T is associated with the risk for AD.
|
23391427 |
2013 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although R47H mutation in AD affected the glycosylation and normal trafficking of TREM2 less, the detailed pattern of glycosylated TREM2 differs from that of the wild type, thus suggesting that precise regulation of TREM2 glycosylation is impaired when arginine at 47 is mutated to histidine.
|
25615530 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
ApoE4, TREM2 R47H, and rare variants in other genes, such as UNC5C D353N, are likely responsible for the notable occurrence of AD in this family.
|
26076170 |
2015 |
|
rs75932628
|
|
|
0.900 |
GeneticVariation |
BEFREE |
TREM2 encodes a cell surface receptor expressed on microglia and related cells, and the R47H variant associated with AD appears to affect the ability of TREM2 to bind extracellular ligands.
|
27589997 |
2016 |